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个性化医疗时代的多学科淀粉样变性病护理

Multidisciplinary amyloidosis care in the era of personalized medicine.

作者信息

Bumma Naresh, Kahwash Rami, Parikh Samir V, Isfort Michael, Freimer Miriam, Vallakati Ajay, Redder Elyse, Campbell Courtney M, Sharma Nidhi, Efebera Yvonne, Stino Amro

机构信息

Division of Hematology-Oncology, Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, United States.

Division of Cardiology, Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, United States.

出版信息

Front Neurol. 2022 Oct 13;13:935936. doi: 10.3389/fneur.2022.935936. eCollection 2022.

Abstract

Amyloidosis refers to a group of conditions where abnormal protein-or amyloid-deposits in tissues or organs, often leading to organ malfunction. Amyloidosis affects nearly any organ system, but especially the heart, kidneys, liver, peripheral nervous system, and gastrointestinal tract. Neuromuscular deficits comprise some of its ubiquitous manifestations. Amyloidosis can be quite challenging to diagnose given its clinical heterogeneity and multi-system nature. Early diagnosis with accurate genetic and serologic subtyping is key for effective management and prevention of organ decline. In this review, we highlight the value of a multidisciplinary comprehensive amyloidosis clinic. While such a model exists at numerous clinical and research centers across the globe, the lack of more widespread adoption of such a model remains a major hindrance to the timely diagnosis of amyloidosis. Such a multidisciplinary care model allows for the timely and effective diagnosis of amyloidosis, be it acquired amyloid light amyloidosis (AL), hereditary transthyretin amyloidosis (hATTR), or wild type amyloidosis (TTR-wt), especially in the current era of personalized genomic medicine. A multidisciplinary clinic optimizes the delivery of singular or combinatorial drug therapies, depending on amyloid type, fibril deposition location, and disease progression. Such an arrangement also helps advance research in the field. We present our experience at The Ohio State University, as one example out of many, to highlight the centrality of a multi-disciplinary clinic in amyloidosis care.

摘要

淀粉样变性是指一组异常蛋白质(即淀粉样蛋白)沉积于组织或器官中的病症,常导致器官功能障碍。淀粉样变性几乎可累及任何器官系统,尤其是心脏、肾脏、肝脏、周围神经系统和胃肠道。神经肌肉功能缺损是其常见的一些表现。鉴于淀粉样变性的临床异质性和多系统性质,其诊断颇具挑战性。早期诊断并进行准确的基因和血清学分型是有效管理和预防器官功能衰退的关键。在本综述中,我们强调了多学科综合性淀粉样变性诊所的价值。尽管全球众多临床和研究中心都存在这样的模式,但这种模式缺乏更广泛的采用仍然是淀粉样变性及时诊断的主要障碍。这种多学科护理模式能够及时、有效地诊断淀粉样变性,无论是获得性淀粉样轻链淀粉样变性(AL)、遗传性转甲状腺素蛋白淀粉样变性(hATTR)还是野生型淀粉样变性(TTR-wt),特别是在当前个性化基因组医学时代。多学科诊所可根据淀粉样蛋白类型、纤维沉积位置和疾病进展情况,优化单一或联合药物治疗的实施。这样的安排也有助于推动该领域的研究。我们介绍俄亥俄州立大学的经验,作为众多例子之一,以突出多学科诊所在淀粉样变性护理中的核心地位。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/463e/9630033/7fcacfd0f5fd/fneur-13-935936-g0001.jpg

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